Symptoms Of Gaucher Disease
Gaucher disease is a lysosomal storage deficiency, a rare inherited condition resulting from a mutation of the GBA gene. One in every fifty-seven thousand children born in the United States each year has Gaucher disease. Each parent carries one copy of the damaged gene but shows no signs of the illness. GBA is responsible for converting glucocerebroside, a fatty substance, into a sugar called glucose. This gene carries the biological instructions to make beta-glucocerebrosidase, the responsible enzyme for the conversion process. In Gaucher’s disease, without that enzyme, glucocerebroside remains in tissues, eventually building to toxic levels. Three types of the disease express differently in patients and are of varying severity and appear at differing ages.